ClinVar Miner

List of variants in gene WDR34 reported as pathogenic for Short-rib thoracic dysplasia 11 with or without polydactyly

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Total variants: 11
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HGVS dbSNP
NM_052844.3(WDR34):c.1022C>T (p.Ala341Val) rs587777091
NM_052844.3(WDR34):c.1061C>T (p.Thr354Met) rs587777092
NM_052844.3(WDR34):c.1177G>A (p.Gly393Ser) rs587777096
NM_052844.3(WDR34):c.1307A>G (p.Lys436Arg) rs587777098
NM_052844.3(WDR34):c.1312_1313del (p.Leu438fs)
NM_052844.3(WDR34):c.1339C>T (p.Arg447Trp) rs587777093
NM_052844.3(WDR34):c.1340G>A (p.Arg447Gln) rs587777094
NM_052844.3(WDR34):c.1539_1540CA[1] (p.Thr514fs) rs431905519
NM_052844.3(WDR34):c.26del (p.Pro9fs) rs763975565
NM_052844.3(WDR34):c.472C>T (p.Gln158Ter) rs587777097
NM_052844.3(WDR34):c.982-2A>C rs587777095

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